Results 81 to 90 of about 3,165 (200)

Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains

, 2018
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified.
Klausmann, Stefanie, Sydler, Titus, Beckmann, Katrin, Dettwiler, Martina Andrea, Hilbe, Monika   +4 more
core   +1 more source

Sudden cardiac arrest in a child with nemaline myopathy Critical Care

, 2015
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers.
Manti S., Cavallari V., Marseglia L., Gitto E., D'Angelo G., Salpietro V., Arrigo T.   +6 more
core   +1 more source

Nemaline myopathy.

Archives of pathology & laboratory medicine, 1978
Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire   +3 more sources

Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate

, 2019
Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy.
Bidev, Duygu, Oncel, Mehmet Y., TALİM, BERİL, Oguz, Serife S., Sahin, Suzan, Okur, Nilufer   +5 more
core   +1 more source

Sarcomere Dysfunction in Nemaline Myopathy

Journal of Neuromuscular Diseases, 2017
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function.
de Winter, Josine M, Ottenheijm, Coen A C   +1 more
openaire   +5 more sources

Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function

Skeletal Muscle, 2020
Background Nebulin is a critical thin filament-binding protein that spans from the Z-disk of the skeletal muscle sarcomere to near the pointed end of the thin filament.
Frank Li, Justin Kolb, Julie Crudele, Paola Tonino, Zaynab Hourani, John E. Smith, Jeffrey S. Chamberlain, Henk Granzier   +7 more
doaj   +1 more source

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nature Communications, 2020
Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, Coen Ottenheijm, Thomas Irving, Henk Granzier   +15 more
doaj   +1 more source

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

Biology Open, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling   +4 more
doaj   +1 more source

Magnetic resonance imaging of muscle in nemaline myopathy

, 2004
We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases.
Pelin, K, Sewry, C A, Chattopadhyay, A, Counsell, Serena; id_orcid, Bydder, G, North, K, Wallgren-Pettersson, C, Jungbluth, H; id_orcid, Muntoni, F, Mercuri, E, Laing, N, Allsop, J   +11 more
core   +1 more source